Variant report

Variant	rs11965480
Chromosome Location	chr6:54003899-54003900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10080252	0.87[EUR][1000 genomes]
rs10155669	0.94[EUR][1000 genomes]
rs10484647	0.90[EUR][1000 genomes]
rs10484648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484649	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150874	0.92[EUR][1000 genomes]
rs1150875	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1150880	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1150884	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11963558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966747	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11969471	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11969948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12177981	0.83[EUR][1000 genomes]
rs12661972	0.83[EUR][1000 genomes]
rs1299293	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1340664	0.94[EUR][1000 genomes]
rs1340665	0.94[EUR][1000 genomes]
rs1340667	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1342831	0.87[EUR][1000 genomes]
rs16869492	0.87[EUR][1000 genomes]
rs16884761	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16884835	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884943	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16884946	0.96[EUR][1000 genomes]
rs17755305	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755375	0.94[EUR][1000 genomes]
rs17828437	0.87[EUR][1000 genomes]
rs1856829	0.87[EUR][1000 genomes]
rs1935839	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2145761	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2275769	0.87[EUR][1000 genomes]
rs2275770	0.87[EUR][1000 genomes]
rs2754794	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2754795	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2754798	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2792630	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2792631	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2792634	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2792635	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2792636	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2792638	0.92[EUR][1000 genomes]
rs2792646	0.85[EUR][1000 genomes]
rs28847288	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4329099	0.87[EUR][1000 genomes]
rs4715443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689719	0.87[EUR][1000 genomes]
rs55760696	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132111	0.83[EUR][1000 genomes]
rs6905950	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6924913	0.85[EUR][1000 genomes]
rs6934602	0.87[EUR][1000 genomes]
rs6934690	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73741487	0.83[EUR][1000 genomes]
rs7751241	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9283919	0.85[EUR][1000 genomes]
rs9296742	0.85[EUR][1000 genomes]
rs9464027	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9464028	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9464030	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9464034	0.87[EUR][1000 genomes]
rs9464042	0.83[EUR][1000 genomes]
rs9464043	0.83[EUR][1000 genomes]
rs9464045	0.85[EUR][1000 genomes]
rs9464046	0.85[EUR][1000 genomes]
rs9474748	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9474754	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9474755	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9474762	0.87[EUR][1000 genomes]
rs9474765	0.87[EUR][1000 genomes]
rs9474766	0.87[EUR][1000 genomes]
rs9474768	0.83[EUR][1000 genomes]
rs9474771	0.83[EUR][1000 genomes]
rs9474772	0.85[EUR][1000 genomes]
rs9474773	0.85[EUR][1000 genomes]
rs9474774	0.85[EUR][1000 genomes]
rs9885975	0.87[EUR][1000 genomes]
rs9942457	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2757169	chr6:53951857-54007349	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv885886	chr6:53956877-54009067	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885887	chr6:53961784-54046264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2829860	chr6:53985339-54005043	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1851754	chr6:53989526-54050219	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54000800-54005800	Weak transcription	Fetal Brain Male	brain
3	chr6:54001400-54011000	Weak transcription	Fetal Heart	heart
4	chr6:54002000-54007800	Weak transcription	Liver	Liver
5	chr6:54003000-54004600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:54003000-54008200	Weak transcription	Right Ventricle	heart
7	chr6:54003000-54041400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:54003200-54007200	Weak transcription	Left Ventricle	heart
9	chr6:54003800-54007200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links